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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620027
http://purl.bioontology.org/ontology/OMIM/620027
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY |
| Synonyms |
NEDMISS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDMISS
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY
|
| Gene Symbol |
TMEM1
TRAPPC10
EHOC1
NEDMISS
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Two unrelated consanguineous Pakistani families have been reported (last curated September 2022) [MISCELLANEOUS]
Caused by mutation in the trafficking protein particle complex, subunit 10 gene (TRAPPC10, 602103.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 21q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620027
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5774211
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |